Genetic and Epigenetic Alterations of the NF2 Gene in Sporadic Vestibular SchwannomasReport as inadecuate

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Mutations in the neurofibromatosis type 2 NF2 tumor-suppressor gene have been identified in not only NF2-related tumors but also sporadic vestibular schwannomas VS. This study investigated the genetic and epigenetic alterations in tumors and blood from 30 Korean patients with sporadic VS and correlated these alterations with tumor behavior.

Methodology-Principal Findings

NF2 gene mutations were detected using PCR and direct DNA sequencing and three highly polymorphic microsatellite DNA markers were used to assess the loss of heterozygosity LOH from chromosome 22. Aberrant hypermethylation of the CpG island of the NF2 gene was also analyzed. The tumor size, the clinical growth index, and the proliferative activity assessed using the Ki-67 labeling index were evaluated. We found 18 mutations in 16 cases of 30 schwannomas 53%. The mutations included eight frameshift mutations, seven nonsense mutations, one in-frame deletion, one splicing donor site, and one missense mutation. Nine patients 30% showed allelic loss. No patient had aberrant hypermethylation of the NF2 gene and correlation between NF2 genetic alterations and tumor behavior was not observed in this study.


The molecular genetic changes in sporadic VS identified here included mutations and allelic loss, but no aberrant hypermethylation of the NF2 gene was detected. In addition, no clear genotype-phenotype correlation was identified. Therefore, it is likely that other factors contribute to tumor formation and growth.

Author: Jong Dae Lee , Tae Jun Kwon , Un-Kyung Kim , Won-Sang Lee



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